Canonical Allele Identifier: CA176069321

Gene: HGSNAT

Linked Data

• dbSNP Id: rs574428208
• gnomAD v2: 8-43037160-A-G
• gnomAD v3: 8-43182017-A-G
• gnomAD v4: 8-43182017-A-G
• MyVariant Identifiers: chr8:g.43037160A>G (hg19) ; chr8:g.43182017A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43182017A>G , CM000670.2:g.43182017A>G	GRCh38
NC_000008.10:g.43037160A>G , CM000670.1:g.43037160A>G	GRCh37
NC_000008.9:g.43156317A>G	NCBI36
NG_009552.1:g.46569A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.1013-128A>G MANE Select	ENSP00000368965.4:n.1013-128A>G
ENST00000379644.8:c.1013-128A>G	ENSP00000368965.4:n.1013-128A>G
ENST00000519000.1:n.371A>G
ENST00000521576.1:c.164-128A>G	ENSP00000429029.1:n.164-128A>G
ENST00000522082.5:c.254-128A>G	ENSP00000430151.1:n.254-128A>G
ENST00000524016.5:c.117-128A>G
NM_152419.2:c.1013-128A>G	NP_689632.2:n.1013-128A>G
XM_005273409.1:c.1013-128A>G	XP_005273466.1:n.1013-128A>G
XM_005273410.1:c.1013-128A>G	XP_005273467.1:n.1013-128A>G
XM_005273411.1:c.821-128A>G	XP_005273468.1:n.821-128A>G
XM_005273412.2:c.1013-128A>G	XP_005273469.1:n.1013-128A>G
NM_001363227.1:c.1013-128A>G	NP_001350156.1:n.1013-128A>G
NM_001363228.1:c.821-128A>G	NP_001350157.1:n.821-128A>G
NM_001363229.1:c.149-128A>G	NP_001350158.1:n.149-128A>G
XM_005273412.4:c.1013-128A>G	XP_005273469.1:n.1013-128A>G
NM_152419.3:c.1013-128A>G MANE Select	NP_689632.2:n.1013-128A>G
NM_001363227.2:c.1013-128A>G	NP_001350156.1:n.1013-128A>G
NM_001363228.2:c.821-128A>G	NP_001350157.1:n.821-128A>G
NM_001363229.2:c.149-128A>G	NP_001350158.1:n.149-128A>G